Varaico: Literature-Extracted Genetic Variants

Gene:KMT2A
Variant:p.P58insFs
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KMT2A

NM_001197104.2:p.P58insFs

Associated Papers

Diagnosis and recombinant human growth hormone treatment of Wiedemann-Steiner syndrome: discovery of novel KMT2A variants and review of existing literature.

Wang M et al.

Bmc Pediatrics, 2025

40604511 (PubMed )
Supplement: 12887_2025_5751_MOESM3_ESM.xlsx › Sheet3

Variants in KMT2A in Three Individuals with Previous Suspicion of 22q11.2 Deletion Syndrome.

Silveira HG et al.

Genes, 2024

Prospect of genetic disorders in Saudi Arabia.

Alqahtani AS et al.

Frontiers in Genetics, 2023

37799141 (PubMed )
Supplement: Table1.xlsx › Supplementary_table_1._

Wiedemann-Steiner Syndrome: Case Report and Review of Literature.

Yu H et al.

Children (basel, Switzerland), 2022

36291481 (PubMed )
Supplement: children-09-01545-s001.zip › children-1912335-supplementary.pdf

The progression of Wiedemann-Steiner syndrome in adulthood and two novel variants in the KMT2A gene.

Feldman HR et al.

American Journal of Medical Genetics. Part A, 2019

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."